Table 1.
Fifteen candidate genes associated with developmental delay located between 14q32 and 14q33.
| DD Genes | Morbidity | Diseases | OMIM | Inheritance |
|---|---|---|---|---|
| CCDC88C | Yes | Hydrocephalus, congenital, 1 | # 236600 | AR |
| TRIP11 | Yes | Achondrogenesis, type IA Odontochondrodysplasia 1 |
# 200600 # 184260 |
AR |
| SLC24A4 | Yes | Amelogenesis imperfecta, type IIA5 | # 615887 | AR |
| TMEM251 | Yes | Dysostosis multiplex, Ain-Naz type | # 619345 | AR |
| UBR7 | Yes | Li-Campeau syndrome | # 619189 | AR |
| VRK1 | Yes | Pontocerebellar hypoplasia type 1A | # 607596 | AR |
| BCL11B | Yes | Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities | # 618092 | AD |
| CCNK | Yes | Intellectual developmental disorder with hypertelorism and distinctive facies | # 618147 | AD |
| YY1 | Yes | Gabriele-de Vries syndrome | # 617557 | AD |
| DYNC1H1 | Yes | Mental retardation, autosomal dominant 13 | # 614563 | AD |
| TECPR2 | Yes | Spastic paraplegia 49, autosomal recessive | # 615031 | AR |
| APOPT1 | Yes | Mitochondrial complex IV deficiency, nuclear type 17 | # 619061 | AR |
| AKT1 | Yes | Cowden syndrome 6 | # 615109 | AD |
| BRF1 | Yes | Cerebellofaciodental syndrome | # 616202 | AR |
| PACS2 | Yes | Developmental and epileptic encephalopathy 66 | # 618067 | AD |
DD, developmental delay; OMIM, Online Mendelian Inheritance in Man; #, a number sign in OMIM; AR, autosomal recessive; AD, autosomal dominant.